List of genetic disorders
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The following is a list of genetic disorders and if known, causal type of mutation and the chromosome involved.
- P - Point mutation, or any insertion/deletion entirely inside one gene
- D - Deletion of a gene or genes
- C - Whole chromosome extra, missing, or both - see chromosomal aberrations
- T - Trinucleotide repeat disorders - gene is extended in length
More common disorders
Disorder | Mutation | Chromosome |
---|---|---|
22q11.2 deletion syndrome | D | 22q |
Angelman syndrome | DCP | 15 |
Canavan disease | 17p | |
Celiac disease | ||
Charcot-Marie-Tooth disease | ||
Color blindness | P | X |
Cri du Chat | D | 5 |
Cystic fibrosis | P | 7q |
Down syndrome | C | 21 |
Duchenne muscular dystrophy | D | Xp |
Haemophilia | P | X |
Klinefelter syndrome | C | X |
Neurofibromatosis | 17q/22q/? | |
Phenylketonuria | P | 12q |
Prader-Willi syndrome | DC | 15 |
Sickle-cell disease | P | 11p |
Tay-Sachs disease | P | 15 |
Turner syndrome | C | X |
[edit] 0–9
Disorder | Mutation | Chromosome |
---|---|---|
1p36 deletion syndrome | D | 1p36 |
18p deletion syndrome | D | 18p |
21-hydroxylase deficiency | 6p21.3 | |
45,X see Turner syndrome |
C | X |
47,XX,+21 see Down syndrome |
C | 21 |
47,XXX see triple X syndrome |
C | X |
47,XXY see Klinefelter syndrome |
C | X |
47,XY,+21 see Down syndrome |
C | 21 |
47,XYY syndrome | C | Y |
5-ALA dehydratase-deficient porphyria see ALA dehydratase deficiency |
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5-aminolaevulinic dehydratase deficiency porphyria see ALA dehydratase deficiency |
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5p deletion syndrome see Cri du chat |
D | 5p |
5p- syndrome see Cri du chat |
D | 5p |
[edit] A
[edit] B
[edit] C
[edit] D
[edit] E
Disorder | Mutation | Chromosome |
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Early-Onset familial alzheimer disease (EOFAD) see Alzheimer disease#type 1 see Alzheimer disease#type 3 see Alzheimer disease#type 4 |
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EDS see Ehlers-Danlos syndrome |
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Ehlers-Danlos syndrome | ||
Ekman-Lobstein disease see osteogenesis imperfecta |
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Entrapment neuropathy see hereditary neuropathy with liability to pressure palsies |
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Epiloia see tuberous sclerosis |
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EPP see erythropoietic protoporphyria |
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Erythroblastic anemia see beta thalassemia |
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Erythrohepatic protoporphyria see erythropoietic protoporphyria |
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Erythroid 5-aminolevulinate synthetase deficiency see X-linked sideroblastic anemia |
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Erythropoietic porphyria see congenital erythropoietic porphyria |
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erythropoietic protoporphyria | ||
Erythropoietic uroporphyria see congenital erythropoietic porphyria |
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Eye cancer see retinoblastoma FA - Friedreich ataxia see Friedreich ataxia |
[edit] F
[edit] G
Disorder | Mutation | Chromosome |
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G6PD deficiency |
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Galactokinase deficiency disease see galactosemia |
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Galactose-1-phosphate uridyl-transferase deficiency disease see galactosemia |
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galactosemia | ||
Galactosylceramidase deficiency disease see Krabbe disease |
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Galactosylceramide lipidosis see Krabbe disease |
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galactosylcerebrosidase deficiency see Krabbe disease |
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galactosylsphingosine lipidosis see Krabbe disease |
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GALC deficiency see Krabbe disease |
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GALT deficiency see galactosemia |
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Gaucher disease | ||
Gaucher-like disease see pseudo-Gaucher disease |
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GBA deficiency see Gaucher disease type 1 |
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GD see Gaucher's disease |
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Genetic brain disorders | ||
genetic emphysema see alpha-1 antitrypsin deficiency |
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genetic hemochromatosis see hemochromatosis |
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Giant cell hepatitis, neonatal see Neonatal hemochromatosis |
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GLA deficiency see Fabry disease |
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Glioblastoma, retinal see retinoblastoma |
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Glioma, retinal see retinoblastoma |
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globoid cell leukodystrophy (GCL, GLD) see Krabbe disease |
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globoid cell leukoencephalopathy see Krabbe disease |
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Glucocerebrosidase deficiency see Gaucher disease |
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Glucocerebrosidosis see Gaucher disease |
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Glucosyl cerebroside lipidosis see Gaucher disease |
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Glucosylceramidase deficiency see Gaucher disease |
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Glucosylceramide beta-glucosidase deficiency see Gaucher disease |
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Glucosylceramide lipidosis see Gaucher disease |
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Glyceric aciduria see hyperoxaluria, primary |
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Glycine encephalopathy see Nonketotic hyperglycinemia |
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Glycolic aciduria see hyperoxaluria, primary |
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GM2 gangliosidosis, type 1 see Tay-Sachs disease |
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Goiter-deafness syndrome see Pendred syndrome |
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Graefe-Usher syndrome see Usher syndrome |
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Gronblad-Strandberg syndrome see pseudoxanthoma elasticum |
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Guenther porphyria see congenital erythropoietic porphyria |
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Gunther disease see congenital erythropoietic porphyria |
[edit] H
Disorder | Mutation | Chromosome |
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Haemochromatosis see hemochromatosis |
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Hallgren syndrome see Usher syndrome |
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Harlequin Ichthyosis | ||
Hb S disease see sickle cell anemia |
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HCH see hypochondroplasia |
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HCP see hereditary coproporphyria |
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Head and brain malformations | ||
Hearing disorders and deafness | ||
Hearing problems in children | ||
HEF2A see hemochromatosis#type 2 |
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HEF2B see hemochromatosis#type 2 |
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Hematoporphyria see porphyria |
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Heme synthetase deficiency see erythropoietic protoporphyria |
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Hemochromatoses see hemochromatosis |
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hemochromatosis | ||
hemoglobin M disease see methemoglobinemia#beta-globin type |
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Hemoglobin S disease see sickle cell anemia |
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hemophilia | ||
HEP see hepatoerythropoietic porphyria |
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hepatic AGT deficiency see hyperoxaluria, primary |
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hepatoerythropoietic porphyria | ||
Hepatolenticular degeneration syndrome see Wilson disease |
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Hereditary arthro-ophthalmopathy see Stickler syndrome |
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Hereditary coproporphyria | ||
Hereditary dystopic lipidosis see Fabry disease |
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Hereditary hemochromatosis (HHC) see hemochromatosis |
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Hereditary Inclusion Body Myopathy see skeletal muscle regeneration | |
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Hereditary iron-loading anemia see X-linked sideroblastic anemia |
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Hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease |
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Hereditary motor neuronopathy see spinal muscular atrophy |
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Hereditary motor neuronopathy, type V see distal spinal muscular atrophy, type V |
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Hereditary Multiple Exostoses | ||
Hereditary nonpolyposis colorectal cancer | DNA mismatch repair dysfunction usually in MSH2 and MLH1 genes | usually chromosomes 2 and 3 |
Hereditary periodic fever syndrome see Mediterranean fever, familial |
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Hereditary Polyposis Coli see familial adenomatous polyposis |
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Hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency |
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Hereditary resistance to activated protein C see factor V Leiden thrombophilia |
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Hereditary sensory and autonomic neuropathy type III see familial dysautonomia |
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Hereditary spastic paraplegia see infantile-onset ascending hereditary spastic paralysis |
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Hereditary spinal ataxia see Friedreich ataxia |
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Hereditary spinal sclerosis see Friedreich ataxia |
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Herrick's anemia see sickle cell anemia |
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Heterozygous OSMED see Weissenbacher-Zweymüller syndrome |
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Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome |
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HexA deficiency see Tay-Sachs disease |
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Hexosaminidase A deficiency see Tay-Sachs disease |
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Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease |
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HFE-associated hemochromatosis see hemochromatosis |
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HGPS see Hutchinson-Gilford progeria syndrome |
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Hippel-Lindau disease see von Hippel-Lindau disease |
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HLAH see hemochromatosis |
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HMN V see distal spinal muscular atrophy, type V |
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HMSN see Charcot-Marie-Tooth disease |
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HNPCC see hereditary nonpolyposis colorectal cancer |
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HNPP see hereditary neuropathy with liability to pressure palsies |
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homocystinuria | ||
Homogentisic acid oxidase deficiency see alkaptonuria |
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Homogentisic acidura see alkaptonuria |
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Homozygous porphyria cutanea tarda see hepatoerythropoietic porphyria |
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HP1 see hyperoxaluria, primary |
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HP2 see hyperoxaluria, primary |
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HPA see hyperphenylalaninemia |
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HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome |
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HSAN type III see familial dysautonomia |
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HSAN3 see familial dysautonomia |
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HSN-III see familial dysautonomia |
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Human dermatosparaxis see Ehlers-Danlos syndrome#dermatosparaxis type |
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Huntington's disease | T | gene IT-15 on chromosome 4 |
Hutchinson-Gilford progeria syndrome | ||
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency |
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Hyperchylomicronemia, familial see lipoprotein lipase deficiency, familial |
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hyperglycinemia with ketoacidosis and leukopenia see propionic acidemia |
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Hyperlipoproteinemia type I see lipoprotein lipase deficiency, familial |
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hyperoxaluria, primary | ||
hyperphenylalaninaemia see hyperphenylalaninemia |
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hyperphenylalaninemia | ||
Hypochondrodysplasia see hypochondroplasia |
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hypochondrogenesis | ||
hypochondroplasia | ||
Hypochromic anemia see X-linked sideroblastic anemia |
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Hypocupremia, congenital see Menkes syndrome |
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hypoxanthine phosphoribosyltransferse (HPRT) deficiency see Lesch-Nyhan syndrome |
[edit] I
Disorder | Mutation | Chromosome |
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IAHSP see infantile-onset ascending hereditary spastic paralysis |
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idiopathic hemochromatosis see hemochromatosis, type 3 |
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Idiopathic neonatal hemochromatosis see hemochromatosis, neonatal |
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Idiopathic pulmonary hypertension see primary pulmonary hypertension |
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Immune system disorders see X-linked severe combined immunodeficiency |
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Incontinentia Pigmenti | P | Xq28 |
Infantile cerebral Gaucher's disease see Gaucher disease type 2 |
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Infantile Gaucher disease see Gaucher disease type 2 |
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infantile-onset ascending hereditary spastic paralysis | ||
Infertility | ||
inherited emphysema see alpha-1 antitrypsin deficiency |
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Inherited human transmissible spongiform encephalopathies see prion disease |
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inherited tendency to pressure palsies see hereditary neuropathy with liability to pressure palsies |
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Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia |
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Intermittent acute porphyria syndrome see acute intermittent porphyria |
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Intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome |
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IP see incontinentia pigmenti |
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Iron storage disorder see hemochromatosis |
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Isodicentric 15 see idic15 |
Inv dup | 15q11-14 |
Isolated deafness see nonsyndromic deafness |
[edit] J
Disorder | Mutation | Chromosome |
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Jackson-Weiss syndrome | ||
JH see Haemochromatosis#type 2 |
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Joubert syndrome | ||
JPLS see Juvenile Primary Lateral Sclerosis |
ALS2 | |
juvenile amyotrophic lateral sclerosis see Amyotrophic lateral sclerosis#type 2 |
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Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome |
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juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome |
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JWS see Jackson-Weiss syndrome |
[edit] K
Disorder | Mutation | Chromosome |
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KD see X-linked spinal-bulbar muscle atrophy |
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Kennedy disease see X-linked spinal-bulbar muscle atrophy |
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Kennedy spinal and bulbar muscular atrophy see X-linked spinal-bulbar muscle atrophy |
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Kerasin histiocytosis see Gaucher disease |
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Kerasin lipoidosis see Gaucher disease |
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Kerasin thesaurismosis see Gaucher disease |
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ketotic glycinemia see propionic acidemia |
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ketotic hyperglycinemia see propionic acidemia |
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Kidney diseases see hyperoxaluria, primary |
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Klinefelter syndrome | ||
Klinefelter's syndrome see Klinefelter syndrome |
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Kniest dysplasia | ||
Krabbe disease |
[edit] L
[edit] M
[edit] N
[edit] O
Disorder | Mutation | Chromosome |
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Ochronosis see alkaptonuria |
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Ochronotic arthritis see alkaptonuria |
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OI see osteogenesis imperfecta |
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OSMED see otospondylomegaepiphyseal dysplasia |
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osteogenesis imperfecta | ||
Osteopsathyrosis see osteogenesis imperfecta |
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Osteosclerosis congenita see achondroplasia |
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Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia |
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otospondylomegaepiphyseal dysplasia | ||
Oxalosis see hyperoxaluria, primary |
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Oxaluria, primary see hyperoxaluria, primary |
[edit] P
[edit] R
Disorder | Mutation | Chromosome |
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Rb see retinoblastoma |
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Recklinghausen disease, nerve see neurofibromatosis 1 |
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Recurrent polyserositis see Mediterranean fever, familial |
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Retinal disorders | ||
Retinitis pigmentosa-deafness syndrome see Usher syndrome |
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Retinoblastoma | ||
Rett syndrome | ||
RFALS type 3 see Amyotrophic lateral sclerosis#type 2 |
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Ricker syndrome see Myotonic dystrophy#type 2 |
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Riley-Day syndrome see familial dysautonomia |
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Roussy-Levy syndrome see Charcot-Marie-Tooth disease |
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RSTS see Rubinstein-Taybi syndrome |
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RTS see Rett syndrome see Rubinstein-Taybi syndrome |
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RTT see Rett syndrome |
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Rubinstein-Taybi syndrome |
[edit] S
[edit] T
[edit] U
Disorder | Mutation | Chromosome |
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UDP-galactose-4-epimerase deficiency disease see galactosemia |
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UDP glucose 4-epimerase deficiency disease see galactosemia |
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UDP glucose hexose-1-phosphate uridylyltransferase deficiency see galactosemia |
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Ullrich-Noonan syndrome see Noonan syndrome |
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Ullrich-Turner syndrome see Turner syndrome |
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Undifferentiated deafness see nonsyndromic deafness |
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UPS deficiency see acute intermittent porphyria |
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Urinary bladder cancer see bladder cancer |
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UROD deficiency see porphyria cutanea tarda |
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Uroporphyrinogen decarboxylase deficiency see porphyria cutanea tarda |
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Uroporphyrinogen synthase deficiency see acute intermittent porphyria |
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UROS deficiency see congenital erythropoietic porphyria |
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Usher syndrome | ||
UTP hexose-1-phosphate uridylyltransferase deficiency see galactosemia |
[edit] V
Disorder | Mutation | Chromosome |
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Van Bogaert-Bertrand syndrome see Canavan disease |
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Van der Hoeve syndrome see osteogenesis imperfecta#Type I |
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variegate porphyria | ||
Velocardiofacial syndrome see 22q11.2 deletion syndrome |
D | 22q |
VHL syndrome see von Hippel-Lindau disease |
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Vision impairment and blindness see Alstrom syndrome |
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Von Bogaert-Bertrand disease see Canavan disease |
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von Hippel-Lindau disease | ||
Von Recklenhausen-Applebaum disease see hemochromatosis |
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von Recklinghausen disease see neurofibromatosis 1 |
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VP see variegate porphyria |
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Vrolik disease see osteogenesis imperfecta |
[edit] W
Disorder | Mutation | Chromosome |
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Waardenburg syndrome | ||
Warburg Sjo Fledelius Syndrome see Micro syndrome |
2q21.3 | |
WD - Wilson's disease see Wilson disease |
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Weissenbacher-Zweymüller syndrome | ||
Wilson disease | ||
Wilson's disease see Wilson disease |
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Wolff Periodic disease see Mediterranean fever, familial |
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WZS see Weissenbacher-Zweymüller syndrome |
[edit] X
[edit] Y
Disorder | Mutation | Chromosome |
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YY syndrome see 47,XYY syndrome |